October is Bleeding Disorders Awareness Month in Australia and the theme this year is,

                                                                  ‘Working together’

to join individuals and communities and help raise awareness about bleeding disorders.

As one of the largest haematology clinical research institutes in Western Australia, Perth Blood Institute (PBI) is promoting October’s Bleeding Disorders Awareness Month. Bleeding disorders are rare conditions which affect the way the body manages blood clotting. These disorders can lead to severe, painful life-threatening symptoms, which can have a major impact on an individual’s daily life and general comfort. To support the occasion PBI would like to provide some background information about the three main types of bleeding disorders – haemophilia A & B and von Willebrand Disease.

The most common bleeding disorder is haemophilia, where there are two main types.

Haemophilia A – caused by a reduction in factor VIII, which is a protein involved in blood clotting. Symptoms vary depending on level of factor VIII. Less than 1% have frequent spontaneous bleeding from early life; 1-5% present with severe bleeding following injury and occasional spontaneous episodes; and above 5% show mild disease associated with bleeding only after injury or surgery.

Haemophilia B – caused by a deficiency in factor IX (also involved in the blood clotting process). Clinical features are similar to haemophilia A.

Visit our website for additional information about Haemophilia.

Another common bleeding disorder is von Willebrand disease which affects approximately 1% of the population. It is caused by having either low levels or underperforming von Willebrand factor (VWF). VWF is an important protein which is involved in the blood clotting process. You can read more about von Willebrand disease on our website von Willebrand Disease (VWD).

Here we present data from The World Federation of Hemophilia's Annual Global Survey for 1999‐2018 and for 2021. This demonstrates bleeding disorder numbers continue to rise.

Research into bleeding disorders

Identifying what type of bleeding disorder someone might have can be difficult, with only 30% of patients referred to a haematologist for assessment receive a diagnosis. The majority of patients will be diagnosed with a bleeding disorder of unknown cause (BDUC). The BDUC clinical phenotype (a group of observable characteristics of an individual which results from the interaction of one's genetic makeup and the environment) is vague or difficult to distinguish from other mild bleeding disorders.

Research from five studies (2019/2020) of BDUC frequency in patients who were referred for assessment of potential mild bleeding tendency found the frequency of female patients with BDUC was between 46%-66%. Heavy menstrual bleeding is a common trigger to consider for the diagnosis of BDUC.

This unmet need for a clinical and laboratory criteria for a formal BDUC diagnosis is the reason PBI has undertaken research into this crucial topic. PBI’s Professor Ross Baker has been investigating BDUC for several years, working with Professor James O’Donnell from the Royal College of Surgeons in Ireland. Their published review in 2021 on How I treat bleeding disorder of unknown cause has shed some light on the diversity of patient presentations, and how each individual case is unique and requires special diagnostic attention.

To read more about Bleeding Disorders Awareness Month, visit the Haemophilia Foundation website.